L4V (p.Leu4Val) variant of HBB (Hemoglobin subunit beta)
L4V (p.Leu4Val) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- rs34126315
- ClinGen CA217115584
- ClinVar RCV001801051
- ExAC rs34126315
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- ESM-1b 1.00
- AlphaMissense 0.35
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available